Canonical Allele Identifier: CA2658163020

Gene: POMC

Linked Data

• gnomAD v4: 2-25161001-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161002del , CM000664.2:g.25161002del	GRCh38
NC_000002.11:g.25383871del , CM000664.1:g.25383871del	GRCh37
NC_000002.10:g.25237375del	NCBI36
NG_008997.1:g.12689del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.*79del MANE Select	ENSP00000379170.2:n.*79del
ENST00000264708.7:c.*79del	ENSP00000264708.3:n.*79del
ENST00000380794.5:c.*79del	ENSP00000370171.1:n.*79del
ENST00000405623.5:c.*79del	ENSP00000384092.1:n.*79del
NM_000939.2:c.*79del	NP_000930.1:n.*79del
NM_001035256.1:c.*79del	NP_001030333.1:n.*79del
XM_011532917.1:c.*79del	XP_011531219.1:n.*79del
NM_000939.3:c.*79del	NP_000930.1:n.*79del
NM_001035256.2:c.*79del	NP_001030333.1:n.*79del
NM_001319204.1:c.*79del	NP_001306133.1:n.*79del
NM_001319205.1:c.*79del	NP_001306134.1:n.*79del
NM_000939.4:c.*79del MANE Select	NP_000930.1:n.*79del
NM_001319204.2:c.*79del	NP_001306133.1:n.*79del
NM_001319205.2:c.*79del	NP_001306134.1:n.*79del
NM_001035256.3:c.*79del	NP_001030333.1:n.*79del